R19G (p.Arg19Gly) variant of POLD1 (P28340)
R19G (p.Arg19Gly) in POLD1 (P28340) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R19G (p.Arg19Gly) variant details
- p.Arg19Gly
- gnomAD 19-50398906-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.06
- CADD 19.50
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available